Variant report
| Variant | esv2497030 |
|---|---|
| Chromosome Location | chr12:75111678-75111755 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs183484419 | chr12:75111685-75111686 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs550728993 | chr12:75111688-75111689 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs572534381 | chr12:75111692-75111693 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs10785143 | chr12:75111696-75111697 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs147809284 | chr12:75111697-75111698 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs533909638 | chr12:75111700-75111701 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs188312483 | chr12:75111708-75111709 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs553001059 | chr12:75111712-75111713 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs547506537 | chr12:75111716-75111717 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs373698276 | chr12:75111734-75111735 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs200456010 | chr12:75111737-75111738 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs201734350 | chr12:75111738-75111739 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs201792238 | chr12:75111741-75111742 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs371402952 | chr12:75111745-75111746 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs150104378 | chr12:75111754-75111755 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs67812589 | chr12:75111755-75111756 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:70)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Cancer | 16751803 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| craniofacial dysmorphism | 21918468 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Breast cancer | 21364760 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:75110800-75116600 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
